Product Details

SNP ID
rs138391738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:75381133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGCTAATTTCCTGGTTTCCCTC[C/T]GGTGGGCTTACCAAGGTTTGACAAA
Phenotype
MIM: 604677
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COL4A3BP PubMed Links

Gene Details

Gene
COL4A3BP
Gene Name
collagen type IV alpha 3 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130105.1 2207 Silent Mutation CCA,CCG P690P NP_001123577.1
NM_005713.2 2207 Silent Mutation CCA,CCG P562P NP_005704.1
NM_031361.2 2207 Silent Mutation CCA,CCG P536P NP_112729.1
XM_006714513.2 2207 Silent Mutation CCA,CCG P562P XP_006714576.1
XM_011543090.2 2207 Silent Mutation CCA,CCG P562P XP_011541392.1
XM_011543091.2 2207 Silent Mutation CCA,CCG P536P XP_011541393.1
XM_017008919.1 2207 Silent Mutation CCA,CCG P536P XP_016864408.1

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